Author

H. Lochmueller

Observed names: H Lochmueller, H.L. Lochmueller, Hanns Lochmueller

Institutions: University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa Hospital, uOttawa Brain and Mind Research Institute

Observed institutions: University of Ottawa, Children's Hospital of Eastern Ontario, Ottawa Hospital, uOttawa Brain and Mind Research Institute, Ludwig-Maximilians-Universität München, Newcastle University

OpenAlex ID: A5105466565

The p.(Leu97Ile) variant expands the genetic landscape of NEFL -associated Charcot–Marie-tooth neuropathies

2026 · Menekse Oeztuerk, Sara Walli, et al. · Human Molecular Genetics

P.071 The value of genetics, biopsy and EMG in diagnosing congenital myopathies

2025 · ER Hui, A Eisenkoelbl, et al. · Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques

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Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations

2016 · D. Natera-de Benito, M. Bestue, et al. · Newcastle University ePrints (Newcastle Univesity)

Dpagt1 mutation: Limb-girdle congenital myasthenic syndrome due to glycosylation defect

2014 · I. Oncel, Ana Topf, et al. · Newcastle University ePrints (Newcastle Univesity)

Autosomal recessive myofibrillar myopathy caused by ACTA1 mutations

2014 · Michela Guglieri, N. Sambuughin, et al. · Newcastle University ePrints (Newcastle Univesity)

Proteomic profile of cytoplasmic bodies (CB) compared to non-CB aggretates in HMERF associated with mutations in A-band titin

2014 · A. Maerkens, G. Tasca, et al. · Newcastle University ePrints (Newcastle Univesity)

Investigating collagen VI biosynthesis and assembly in the context of ALG2 impairment in Ullrich/CMS-like family

2013 · G. Torabi Farsani, Debbie Hicks, et al. · Newcastle University ePrints (Newcastle Univesity)

Desminopathy or myotilinopathy? An integrated proteomics approach for diagnosis

2013 · A. Maerkens, A. Sarkozy, et al. · Newcastle University ePrints (Newcastle Univesity)

Proteomic analysis confirms that HMERF associated with mutations in A-band titin is a new subtype of myofibrillar myopathies

2013 · A. Maerkens, G. Pfeffer, et al. · Newcastle University ePrints (Newcastle Univesity)

Progressive core myopathy with dilated cardiomyopathy, respiratory failure and severe scoliosis caused by a novel mutation in the MYH7 gene

2012 · A. Sarkozy, T. Polvikoski, et al. · Newcastle University ePrints (Newcastle Univesity)

Clinical research activity in Newcastle MRC centre

2012 · J. Maddison, Volker Straub, et al. · Newcastle University ePrints (Newcastle Univesity)

CARE-NMD: Improving care for Duchenne muscular dystrophy

2012 · Sunil Rodger, K. Gramsch, et al. · Newcastle University ePrints (Newcastle Univesity)

A single in-frame deletion in the CAPN3 gene is linked to muscular dystrophy with a dominant pattern of inheritance

2012 · M. Henderson, J. Hudson, et al. · Newcastle University ePrints (Newcastle Univesity)

Using whole exome sequencing to identify the mutation causing oculopharyngodistal myopathy

2012 · M. Wagner, S. Laval, et al. · Newcastle University ePrints (Newcastle Univesity)

A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy

2012 · V. C. M. Neeve, Angela Pyle, et al. · Newcastle University ePrints (Newcastle Univesity)

CARE-NMD: Evaluation and implementation of relevant health related QoL instruments in Duchenne muscular dystrophy

2012 · J. Rahbek, A. Hojberg, et al. · Newcastle University ePrints (Newcastle Univesity)

CARE-NMD: The role of patient registries in an international study of care in Duchenne muscular dystrophy

2012 · S. Rodger, V. Antonova, et al. · Newcastle University ePrints (Newcastle Univesity)

Beta-blocker/ACE-inhibitor combination treatment in mdx mice

2012 · A. Blain, E. Greally, et al. · Newcastle University ePrints (Newcastle Univesity)

Basement membrane pathology associated with FKRP and fukutin deficiency in zebrafish

2012 · A. Wood, A. P. Cumine, et al. · Newcastle University ePrints (Newcastle Univesity)

Identification of novel variants in patients with non-collagen VI Bethlem myopathy by the emerging technology of exomic sequencing

2012 · Debbie Hicks, E. Martoni, et al. · Newcastle University ePrints (Newcastle Univesity)

Investigating basement membranes in FKRP and fukutin deficient zebrafish

2012 · A. J. Wood, J. S. Mueller, et al. · Newcastle University ePrints (Newcastle Univesity)

G.O.4 Search for SNPs modifiers in DMD with different corticosteroids response by candidate genes targeted resequencing

2012 · M. Bovolenta, A. Sartori, et al. · Neuromuscular Disorders

Serum matrix metalloproteinase-9 (MMP-9) as a biomarker for monitoring Duchenne muscular dystrophy (DMD) disease progression

2011 · P. A. C. 't Hoen, Vishna Devi V Nadarajah, et al. · Newcastle University ePrints (Newcastle Univesity)

Muscle MRI findings in LGMD2L

2011 · A. Sarkozy, Debbie Hicks, et al. · Newcastle University ePrints (Newcastle Univesity)

Mitochondrial DNA mutations in satellite cells

2011 · S. Spendiff, R. Horvath, et al. · Newcastle University ePrints (Newcastle Univesity)

Works count: 46

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